메뉴 건너뛰기




Volumn 117 C, Issue 1, 2003, Pages 57-65

Kabuki make-up syndrome: A review

Author keywords

Kabuki syndrome; MCA MR syndrome; Niikawa Kuroki syndrome

Indexed keywords

ANORECTAL MALFORMATION; BILE DUCT ATRESIA; BODY HEIGHT; CARDIOVASCULAR MALFORMATION; CHROMOSOME ABERRATION; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; DERMATOGLYPHICS; DIAPHRAGM HERNIA; FACE DYSMORPHIA; FEMALE; GENE; GENETIC COUNSELING; GROWTH RETARDATION; HUMAN; INFECTION SENSITIVITY; INTELLIGENCE; INTELLIGENCE QUOTIENT; JOINT LAXITY; KABUKI MAKEUP SYNDROME; KABUKI MAKEUP SYNDROME GENE; KIDNEY MALFORMATION; MALE; MENTAL DEFICIENCY; OTITIS MEDIA; PRIORITY JOURNAL; RECURRENT DISEASE; REPRODUCTION; REVIEW; SEX RATIO; SKELETON MALFORMATION; SYNDROME DELINEATION; TOOTH MALFORMATION; URINARY TRACT MALFORMATION; VAN DER WOUDE SYNDROME; BONE; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; GENETICS; JAPAN; MULTIPLE MALFORMATION SYNDROME; PREVALENCE;

EID: 0042306310     PISSN: 15524868     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.c.10020     Document Type: Review
Times cited : (171)

References (57)
  • 3
    • 0028814317 scopus 로고
    • Kabuki syndrome: Underdiagnosed recognizable pattern in cleft palate patients
    • Burke LW, Jones MC. 1995. Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients. Cleft Palate Craniofac J 32:77-84.
    • (1995) Cleft Palate Craniofac J , vol.32 , pp. 77-84
    • Burke, L.W.1    Jones, M.C.2
  • 5
    • 0030868987 scopus 로고    scopus 로고
    • CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: Report and review
    • Chu DC, Finley SC, Young DW, Proud VK. 1997. CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: report and review. Am J Med Genet 72:205-209.
    • (1997) Am J Med Genet , vol.72 , pp. 205-209
    • Chu, D.C.1    Finley, S.C.2    Young, D.W.3    Proud, V.K.4
  • 6
    • 0034640653 scopus 로고    scopus 로고
    • Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome
    • Courtens W, Nassart A, Stene JJ, Vamos E. 2000. Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome. Am J Med Genet 93:244-249.
    • (2000) Am J Med Genet , vol.93 , pp. 244-249
    • Courtens, W.1    Nassart, A.2    Stene, J.J.3    Vamos, E.4
  • 8
    • 0029072471 scopus 로고
    • Growth hormone deficiency and premature thelarche in a female infant with kabuki makeup syndrome
    • Devriendt K, Lemli L, Craen M, de Zegher F 1995. Growth hormone deficiency and premature thelarche in a female infant with kabuki makeup syndrome. Horm Res 43:303-306.
    • (1995) Horm Res , vol.43 , pp. 303-306
    • Devriendt, K.1    Lemli, L.2    Craen, M.3    De Zegher, F.4
  • 11
    • 0034011324 scopus 로고    scopus 로고
    • Kabuki syndrome and diaphragmatic defects: A frequent association in non-Asian patients?
    • Donadio A, Garavelli L, Banchini G, Neri G. 2000. Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients? Am J Med Genet 91:164-165.
    • (2000) Am J Med Genet , vol.91 , pp. 164-165
    • Donadio, A.1    Garavelli, L.2    Banchini, G.3    Neri, G.4
  • 12
    • 0027194267 scopus 로고
    • Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome
    • Franceschini P, Vardeu MP, Guala A, Franceschini D, Testa A, Corrias A, Chiabotto P. 1993. Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 47:423-425.
    • (1993) Am J Med Genet , vol.47 , pp. 423-425
    • Franceschini, P.1    Vardeu, M.P.2    Guala, A.3    Franceschini, D.4    Testa, A.5    Corrias, A.6    Chiabotto, P.7
  • 13
    • 0035257546 scopus 로고    scopus 로고
    • Niikawa-Kuroki (Kabuki) syndrome in two siblings
    • Frediani T, Lucarelli S, Bruni L. 2001. Niikawa-Kuroki (Kabuki) syndrome in two siblings. Minerva Pediatr 53:43-48.
    • (2001) Minerva Pediatr , vol.53 , pp. 43-48
    • Frediani, T.1    Lucarelli, S.2    Bruni, L.3
  • 14
    • 0027942608 scopus 로고
    • Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4
    • Fryris JP, Van den Berghe H, Schrander-Stumpel C. 1994. Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4. Am J Med Genet 53:204-205.
    • (1994) Am J Med Genet , vol.53 , pp. 204-205
    • Fryris, J.P.1    Van den Berghe, H.2    Schrander-Stumpel, C.3
  • 16
    • 0024450684 scopus 로고
    • Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome
    • Halal F, Gledhill P, Dudkiewicz A. 1989. Autosomal.dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 33:376-381.
    • (1989) Am J Med Genet , vol.33 , pp. 376-381
    • Halal, F.1    Gledhill, P.2    Dudkiewicz, A.3
  • 17
    • 0030744001 scopus 로고    scopus 로고
    • Kabuki make-up (Niikawa-Kuroki) syndrome: Cognitive abilities and autistic features
    • Ho HH, Eaves LC. 1997. Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features. Dev Med Child Neurol 39:487-490.
    • (1997) Dev Med Child Neurol , vol.39 , pp. 487-490
    • Ho, H.H.1    Eaves, L.C.2
  • 19
    • 0028227237 scopus 로고
    • Coarctation of the aorta in Kabuki syndrome
    • Hughes HE, Davies SJ. 1994. Coarctation of the aorta in Kabuki syndrome. Arch Dis Child 70:512-514.
    • (1994) Arch Dis Child , vol.70 , pp. 512-514
    • Hughes, H.E.1    Davies, S.J.2
  • 20
    • 0028903780 scopus 로고
    • Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: Ten new observations
    • Ilyina H, Lurie I, Naumtchik I, Amoashy D, Stephanenko G, Fedotov V, Kostjuk A. 1995. Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations. Am J Med Genet 56:127-131.
    • (1995) Am J Med Genet , vol.56 , pp. 127-131
    • Ilyina, H.1    Lurie, I.2    Naumtchik, I.3    Amoashy, D.4    Stephanenko, G.5    Fedotov, V.6    Kostjuk, A.7
  • 21
    • 0027250529 scopus 로고
    • Partial 6q monosomy/partial 12q trisomy m a child with features of Kabuki make-up syndrome
    • Jardine PE, Burvill-Hohnes LC, Schutt WH, Lunt PW. 1993. Partial 6q monosomy/partial 12q trisomy m a child with features of Kabuki make-up syndrome. Clin Dysmorphol 2:269-273.
    • (1993) Clin Dysmorphol , vol.2 , pp. 269-273
    • Jardine, P.E.1    Burvill-Hohnes, L.C.2    Schutt, W.H.3    Lunt, P.W.4
  • 22
    • 0033504485 scopus 로고    scopus 로고
    • Phenotypic spectrum and management issues in Kabuki syndrome
    • Kawame H, Hannibal MC, Hudgins L, Pagon RA. 1999. Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr 134:480-485.
    • (1999) J Pediatr , vol.134 , pp. 480-485
    • Kawame, H.1    Hannibal, M.C.2    Hudgins, L.3    Pagon, R.A.4
  • 24
    • 0030561981 scopus 로고    scopus 로고
    • Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome
    • Kobayashi O, Sakuragawa N. 1996. Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 61:92-93.
    • (1996) Am J Med Genet , vol.61 , pp. 92-93
    • Kobayashi, O.1    Sakuragawa, N.2
  • 25
    • 0035318970 scopus 로고    scopus 로고
    • A longitudinal evaluation of craniofacial growth in a patient with Kabuki make-up syndrome: A case report
    • Kobayashi ET, Maruyama Y, Kobayashi K. 2001. A longitudinal evaluation of craniofacial growth in a patient with Kabuki make-up syndrome: a case report. Eur J Orthod 23:205-213.
    • (2001) Eur J Orthod , vol.23 , pp. 205-213
    • Kobayashi, E.T.1    Maruyama, Y.2    Kobayashi, K.3
  • 27
    • 0019837311 scopus 로고
    • A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation
    • Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. 1981. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 99:570-573.
    • (1981) J Pediatr , vol.99 , pp. 570-573
    • Kuroki, Y.1    Suzuki, Y.2    Chyo, H.3    Hata, A.4    Matsui, I.5
  • 29
    • 0029858527 scopus 로고    scopus 로고
    • Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2
    • Li M, Zackai EH, Niikawa N, Kaplan P, Driscoll DA. 1996. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2. Am J Med Genet 65:101-103.
    • (1996) Am J Med Genet , vol.65 , pp. 101-103
    • Li, M.1    Zackai, E.H.2    Niikawa, N.3    Kaplan, P.4    Driscoll, D.A.5
  • 30
    • 0031840088 scopus 로고    scopus 로고
    • Interstitial Dup(1p) with findings of kabuki make-up syndrome
    • Lo IF, Cheung LY, Ng AY, Lam ST 1998. Interstitial Dup(1p) with findings of kabuki make-up syndrome. Am J Med Genet 78:55-57.
    • (1998) Am J Med Genet , vol.78 , pp. 55-57
    • Lo, I.F.1    Cheung, L.Y.2    Ng, A.Y.3    Lam, S.T.4
  • 31
    • 0028943017 scopus 로고
    • Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13
    • Lynch SA, Ashcroft KA, Zwolinski S, Clarke C, Burn J. 1995. Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13. J Med Genet 32:227-230.
    • (1995) J Med Genet , vol.32 , pp. 227-230
    • Lynch, S.A.1    Ashcroft, K.A.2    Zwolinski, S.3    Clarke, C.4    Burn, J.5
  • 32
    • 0032848882 scopus 로고    scopus 로고
    • Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q4l
    • Makita Y, Yamada K, Miyamoto A, Okuno A, Niikawa N. 1999. Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q4l. Am J Med Genet 86:285-288.
    • (1999) Am J Med Genet , vol.86 , pp. 285-288
    • Makita, Y.1    Yamada, K.2    Miyamoto, A.3    Okuno, A.4    Niikawa, N.5
  • 35
    • 0034797226 scopus 로고    scopus 로고
    • Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand
    • McGaughran J, Aftimos S, Jefferies C, Winship I. 2001. Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand. Clin Dysmorphol 10:257-262.
    • (2001) Clin Dysmorphol , vol.10 , pp. 257-262
    • McGaughran, J.1    Aftimos, S.2    Jefferies, C.3    Winship, I.4
  • 37
    • 0032867526 scopus 로고    scopus 로고
    • Genetic landmarks through philately-Kabuki theater and Kabuki syndrome
    • Mhanni AA, Chudley AE. 1999. Genetic landmarks through philately-Kabuki theater and Kabuki syndrome. Clin Genet 56:116-117.
    • (1999) Clin Genet , vol.56 , pp. 116-117
    • Mhanni, A.A.1    Chudley, A.E.2
  • 38
    • 0032876873 scopus 로고    scopus 로고
    • Kabuki syndrome: Description of dental findings in 8 patients
    • Mhanni AA, Cross HG, Chudley AE. 1999. Kabuki syndrome: description of dental findings in 8 patients. Clin Genet 56:154-157.
    • (1999) Clin Genet , vol.56 , pp. 154-157
    • Mhanni, A.A.1    Cross, H.G.2    Chudley, A.E.3
  • 39
    • 33646212572 scopus 로고    scopus 로고
    • Features of Kabuki syndrome in a patient with a X-Y translocation
    • Moncla A, Sigaudy S, Mattei MG, Simonin G, Philip N. 1996. Features of Kabuki syndrome in a patient with a X-Y translocation. Eur J Hum Genet 4(Suppl):144.
    • (1996) Eur J Hum Genet , vol.4 , Issue.SUPPL. , pp. 144
    • Moncla, A.1    Sigaudy, S.2    Mattei, M.G.3    Simonin, G.4    Philip, N.5
  • 40
    • 0019850335 scopus 로고
    • Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency
    • Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. 1981. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99:565-569.
    • (1981) J Pediatr , vol.99 , pp. 565-569
    • Niikawa, N.1    Matsuura, N.2    Fukushima, Y.3    Ohsawa, T.4    Kajii, T.5
  • 41
    • 0020024699 scopus 로고
    • The dermatoglyphic pattern of the Kabuki make-up syndrome
    • Niikawa N, Kuroki Y, Kajii T. 1982. The dermatoglyphic pattern of the Kabuki make-up syndrome. Clin Genet 21:315-320.
    • (1982) Clin Genet , vol.21 , pp. 315-320
    • Niikawa, N.1    Kuroki, Y.2    Kajii, T.3
  • 43
    • 33646215683 scopus 로고
    • Miscellaneous
    • Oski FA, Stockman JA III, editors. Chicago: Year Book Medical Publishers
    • Oski FA, Stockman JA III. 1983. Miscellaneous. In: Oski FA, Stockman JA III, editors. The yearbook of pediatrics. Chicago: Year Book Medical Publishers. p 467-469.
    • (1983) The Yearbook of Pediatrics , pp. 467-469
    • Oski, F.A.1    Stockman J.A. III2
  • 47
    • 0037100032 scopus 로고    scopus 로고
    • Kabuki syndrome: Report of six Thai children and further phenotypic and genetic delineation
    • in press
    • Shotelersuk V, Punyashthiti R, Srivuthana S, Wacharasindhu S. 2002. Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation. Am J Med Genet (in press).
    • (2002) Am J Med Genet
    • Shotelersuk, V.1    Punyashthiti, R.2    Srivuthana, S.3    Wacharasindhu, S.4
  • 48
    • 0030592939 scopus 로고    scopus 로고
    • Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome
    • Silengo M, Lerone M, Seri M, Romeo G. 1996. Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome. Am J Med Genet 66:368.
    • (1996) Am J Med Genet , vol.66 , pp. 368
    • Silengo, M.1    Lerone, M.2    Seri, M.3    Romeo, G.4
  • 49
    • 0027984667 scopus 로고
    • A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction
    • Tawa R, Kaino Y, Ito T, Goto Y, Kida K, Matsuda H. 1994. A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction. Acta Paediatr Jpn 36:412-415.
    • (1994) Acta Paediatr Jpn , vol.36 , pp. 412-415
    • Tawa, R.1    Kaino, Y.2    Ito, T.3    Goto, Y.4    Kida, K.5    Matsuda, H.6
  • 51
    • 0027955662 scopus 로고
    • Premature thelarche in Kabuki make-up syndrome
    • Tutar HE, Ocal G, Ince E, Cin S. 1994. Premature thelarche in Kabuki make-up syndrome. Acta Paediatr Jpn 36:104-106.
    • (1994) Acta Paediatr Jpn , vol.36 , pp. 104-106
    • Tutar, H.E.1    Ocal, G.2    Ince, E.3    Cin, S.4
  • 54
    • 0028711803 scopus 로고
    • Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura
    • Watanabe T, Miyakawa M, Satoh M, Abe T, Oda Y. 1994. Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura. Acta Paediat Jpn 36:727-729.
    • (1994) Acta Paediat Jpn , vol.36 , pp. 727-729
    • Watanabe, T.1    Miyakawa, M.2    Satoh, M.3    Abe, T.4    Oda, Y.5
  • 55
    • 0028139279 scopus 로고
    • Kabuki make-up and Turner syndromes in the same patient
    • Wellesley DG, Slaney S. 1994. Kabuki make-up and Turner syndromes in the same patient. Clin Dysmorphol 3:297-300.
    • (1994) Clin Dysmorphol , vol.3 , pp. 297-300
    • Wellesley, D.G.1    Slaney, S.2
  • 56
    • 0032167812 scopus 로고    scopus 로고
    • Thirteen cases of Niikawa-Kuroki syndrome: Report and review with emphasis on medical complications and preventive management
    • Wilson GN. 1998. Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management. Am J Med Genet 79:112-120.
    • (1998) Am J Med Genet , vol.79 , pp. 112-120
    • Wilson, G.N.1
  • 57
    • 0031554805 scopus 로고    scopus 로고
    • Cerebellar and brainstem "atrophy" in a patient with Kabuki make-up syndrome
    • Yano S, Matsuishi T, Yoshino M, Kato H, Kojima K. 1997. Cerebellar and brainstem "atrophy" in a patient with Kabuki make-up syndrome. Am J Med Genet 71:486-487.
    • (1997) Am J Med Genet , vol.71 , pp. 486-487
    • Yano, S.1    Matsuishi, T.2    Yoshino, M.3    Kato, H.4    Kojima, K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.